Variant report

Variant	nsv525415
Chromosome Location	chr7:11791621-11795598
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:11793826-11794047	GM12878	blood:	n/a	n/a
2	BCL3	chr7:11790859-11792070	A549	lung:	n/a	n/a
3	BCL3	chr7:11791136-11792059	A549	lung:	n/a	n/a
4	CREB1	chr7:11791682-11791955	A549	lung:	n/a	n/a
5	CTCF	chr7:11794706-11794776	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr7:11794660-11794810	A549	lung:	n/a	n/a
7	CTCF	chr7:11794679-11794826	A549	lung:	n/a	n/a
8	CTCF	chr7:11794700-11794850	BE2_C	brain:	n/a	n/a
9	CTCF	chr7:11794680-11794830	HepG2	liver:	n/a	n/a
10	EP300	chr7:11793944-11793993	GM12878	blood:	n/a	n/a
11	EP300	chr7:11793880-11794080	GM12878	blood:	n/a	n/a
12	EP300	chr7:11790865-11792180	A549	lung:	n/a	chr7:11791071-11791085
13	EP300	chr7:11793906-11794070	GM12878	blood:	n/a	n/a
14	EP300	chr7:11790460-11792207	A549	lung:	n/a	chr7:11791071-11791085
15	FOSL2	chr7:11790835-11791966	A549	lung:	n/a	chr7:11791126-11791134
16	FOXA1	chr7:11791555-11791984	T-47D	breast:	n/a	n/a
17	FOXA1	chr7:11791597-11791897	T-47D	breast:	n/a	n/a
18	FOXA2	chr7:11791223-11792188	A549	lung:	n/a	n/a
19	FOXA2	chr7:11791403-11792120	A549	lung:	n/a	n/a
20	GATA3	chr7:11791540-11792063	MCF-7	breast:	n/a	n/a
21	GATA3	chr7:11790958-11792108	A549	lung:	n/a	n/a
22	GATA3	chr7:11790758-11792156	A549	lung:	n/a	n/a
23	GATA3	chr7:11791565-11791961	T-47D	breast:	n/a	n/a
24	JUND	chr7:11791459-11792011	A549	lung:	n/a	n/a
25	MAX	chr7:11790782-11792116	A549	lung:	n/a	chr7:11791320-11791329
26	MEF2A	chr7:11793703-11794160	GM12878	blood:	n/a	n/a
27	NFIC	chr7:11793666-11794141	GM12878	blood:	n/a	n/a
28	NR2F2	chr7:11791525-11791935	MCF-7	breast:	n/a	n/a
29	NR2F2	chr7:11791569-11792034	MCF-7	breast:	n/a	n/a
30	NR3C1	chr7:11790859-11792173	A549	lung:	n/a	chr7:11791125-11791134 chr7:11791126-11791135
31	NR3C1	chr7:11791520-11791986	A549	lung:	n/a	n/a
32	NR3C1	chr7:11791532-11792077	A549	lung:	n/a	n/a
33	NR3C1	chr7:11791481-11792051	A549	lung:	n/a	n/a
34	NR3C1	chr7:11791632-11791962	A549	lung:	n/a	n/a
35	NR3C1	chr7:11791436-11792077	A549	lung:	n/a	n/a
36	NR3C1	chr7:11791503-11792026	A549	lung:	n/a	n/a
37	POLR2A	chr7:11791387-11792058	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr7:11791437-11792012	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr7:11791812-11791923	Gliobla	brain:	n/a	n/a
40	POLR2A	chr7:11791796-11791904	A549	lung:	n/a	n/a
41	POLR2A	chr7:11791786-11791811	Gliobla	brain:	n/a	n/a
42	REST	chr7:11790973-11792042	A549	lung:	n/a	n/a
43	RUNX3	chr7:11793805-11794135	GM12878	blood:	n/a	n/a
44	RUNX3	chr7:11793799-11794069	GM12878	blood:	n/a	n/a
45	SP1	chr7:11790800-11792218	A549	lung:	n/a	chr7:11791034-11791046 chr7:11791034-11791046
46	SP1	chr7:11790901-11792119	A549	lung:	n/a	chr7:11791034-11791046 chr7:11791034-11791046
47	SPI1	chr7:11793799-11794027	GM12891	blood:	n/a	chr7:11793907-11793916
48	TCF12	chr7:11791375-11791958	A549	lung:	n/a	chr7:11791736-11791743
49	TCF12	chr7:11790726-11792272	A549	lung:	n/a	chr7:11791736-11791743
50	TCF7L2	chr7:11791026-11792212	PANC-1	pancreas:	n/a	n/a

Variant related genes	Relation type
THSD7A	TF binding region

Extended variants
information (count: 169 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10950366	chr7:11791621-11791622	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535608562	chr7:11791622-11791623	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs560832709	chr7:11791623-11791624	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs555718171	chr7:11791626-11791627	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs188433976	chr7:11791652-11791653	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs546239611	chr7:11791654-11791655	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs192856677	chr7:11791678-11791679	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs113318163	chr7:11791743-11791744	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs560972480	chr7:11791753-11791754	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs147572068	chr7:11791757-11791758	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs546611902	chr7:11791762-11791763	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs566406555	chr7:11791767-11791768	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs10499405	chr7:11791774-11791775	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs373298222	chr7:11791786-11791787	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs568474937	chr7:11791787-11791788	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs373696206	chr7:11791788-11791789	Enhancers Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs10499404	chr7:11791832-11791833	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554648659	chr7:11791833-11791834	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs574976236	chr7:11791849-11791850	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs186625742	chr7:11791850-11791851	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs62433410	chr7:11791873-11791874	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs79873245	chr7:11791891-11791892	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs28712322	chr7:11791974-11791975	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs191575796	chr7:11791988-11791989	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs562871889	chr7:11792059-11792060	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs115498178	chr7:11792063-11792064	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs577913490	chr7:11792079-11792080	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs541999520	chr7:11792125-11792126	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs184897179	chr7:11792188-11792189	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs529874435	chr7:11792197-11792198	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs546793587	chr7:11792250-11792251	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs199626945	chr7:11792295-11792296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111967214	chr7:11792317-11792318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4721010	chr7:11792368-11792369	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552006812	chr7:11792369-11792370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117711443	chr7:11792372-11792373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190740840	chr7:11792391-11792392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548016847	chr7:11792395-11792396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568129003	chr7:11792397-11792398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115466537	chr7:11792463-11792464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554413959	chr7:11792476-11792477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181682148	chr7:11792479-11792480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540180376	chr7:11792491-11792492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112229481	chr7:11792525-11792526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185154660	chr7:11792532-11792533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574198635	chr7:11792540-11792541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142076445	chr7:11792557-11792558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561904780	chr7:11792568-11792569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572520095	chr7:11792579-11792580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs59311662	chr7:11792580-11792581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Rett syndrome	21593744	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11783000-11793000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:11790400-11791800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:11790600-11792600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:11791600-11791800	Active TSS	A549	lung
5	chr7:11791600-11792000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:11791600-11792200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:11791600-11795000	Weak transcription	Placenta	Placenta
8	chr7:11791800-11792000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:11791800-11792000	Flanking Active TSS	A549	lung
10	chr7:11792000-11792200	Enhancers	A549	lung
11	chr7:11792000-11793000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:11792200-11792400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:11792200-11792600	Weak transcription	A549	lung
14	chr7:11792600-11795000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:11792600-11795000	Enhancers	A549	lung
16	chr7:11792800-11793400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:11792800-11794200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr7:11793000-11793400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:11793000-11793400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:11793000-11793400	Enhancers	Fetal Muscle Leg	muscle
21	chr7:11794200-11794800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:11794800-11796400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:11795000-11795400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:11795000-11795400	Enhancers	Placenta	Placenta
25	chr7:11795000-11795400	Flanking Active TSS	A549	lung
26	chr7:11795400-11795600	Active TSS	A549	lung
27	chr7:11795400-11798000	Weak transcription	Placenta	Placenta

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